Search | Genome Research

Research

Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources

Xiaoyu Zhuo
Chad Tomlinson
Edward A. Belter
Prashant Kumar Kuntala
Wesley N. Saintilnord
Juan Jiang Tina Lindsay Juan F. Macias-Velasco Robert S. Fulton Ting Wang Derek Albracht Ivan A. Alexandrov Jamie Allen Alawi A. Alsheikh-Ali Nicolas Altemose Casey Andrews Dmitry Antipov Lucinda Antonacci-Fulton Mobin Asri Marcelo Ayllon Jennifer R. Balacco Floris P. Barthel Edward A. Belter Halle D. Bender Andrew P. Blair Davide Bolognini Katherine E. Bonini Christina Boucher Guillaume Bourque Silvia Buonaiuto Shuo Cao Andrew Carroll Ann M. Mc Cartney Monika Cechova Mark J.P. Chaisson Pi-Chuan Chang Xian Chang Jitender Cheema Haoyu Cheng Claudio Ciofi Hiram Clawson Sarah Cody Vincenza Colonna Holland C. Conwell Robert Cook-Deegan Mark Diekhans Maria Angela Diroma Daniel Doerr Zheng Dong Danilo Dubocanin Richard Durbin Jana Ebler Evan E. Eichler Jordan M. Eizenga Parsa Eskandar Eddie Ferro Anna-Sophie Fiston-Lavier Sarah M. Ford Willard W. Ford Giulio Formenti Adam Frankish Mallory A. Freeberg Qichen Fu Stephanie M. Fullerton Robert S. Fulton Yan Gao Gage H. Garcia Obed A. Garcia Joshua M.V. Gardner Shilpa Garg Erik Garrison Nanibaa’ A. Garrison John E. Garza Margarita Geleta Mohammadmersad Ghorbani Tina A. Graves-Lindsay Richard E. Green Cristian Groza Bida Gu Andrea Guarracino Melissa Gymrek Maximilian Haeussler Leanne Haggerty Ira M. Hall Nancy F. Hansen Yue Hao Mohammad Amiruddin Hashmi David Haussler Prajna Hebbar Peter Heringer Glenn Hickey Todd L. Hillaker S. Nakib Hossain Neng Huang Sarah E. Hunt Toby Hunt Alexander G. Ioannidis Nafiseh Jafarzadeh Nivesh Jain Erich D. Jarvis Maryam Jehangir Juan Jiang Eimear E. Kenny Juhyun Kim Bonhwang Koo Sergey Koren Milinn Kremitzki Charles H. Langley Ben Langmead Heather A. Lawson Daofeng Li Heng Li Wen-Wei Liao Jiadong Lin Tianjie Liu Glennis A. Logsdon Ryan Lorig-Roach Jonathan LoTempio Hailey Loucks Jane E. Loveland Jianguo Lu Shuangjia Lu Julian K. Lucas Walfred Ma Juan F. Macias-Velasco Kateryna D. Makova Maximillian G. Marin Christopher Markovic Tobias Marschall Franco L. Marsico Fergal J. Martin Mira Mastoras Capucine Mayoud Brandy McNulty Jack A. Medico Julian M. Menendez Karen H. Miga Anna Minkina Matthew W. Mitchell Saswat K. Mohanty Younes Mokrab Jean Monlong Shabir Moosa Avelina Moreno-Ochando Shinichi Morishita Jonathan M. Mudge Katherine M. Munson Njagi Mwaniki Nasna Nassir Chiara Natali Shloka Negi Lingbin Ni Adam M. Novak Pilar N. Ossorio Chie Owa Sadye Paez Benedict Paten Clelia Peano Adam M. Phillippy Brandon D. Pickett Laura Pignata Nadia Pisanti David Porubsky Pjotr Prins Anandi Radhakrishnan T. Rhyker Ranallo-Benavidez Brian J. Raney Mikko Rautiainen Alessandro Raveane Luyao Ren Arang Rhie Fedor Ryabov Samuel Sacco Farnaz Salehi Michael C. Schatz Laura B. Scheinfeldt Aarushi Sehgal William E. Seligmann Mahsa Shabani Kishwar Shafin Shadi Shahatit Ruhollah Shemirani Vikram S. Shivakumar Swati Sinha Jouni Sirén Linnéa Smeds Steven J. Solar Marco Sollitto Nicole Soranzo Andrew B. Stergachis Marie-Marthe Suner Yoshihiko Suzuki Arda Söylev Ahmad Abou Tayoun Jack A.S. Tierney Chad Tomlinson Francesca Floriana Tricomi Mohammed Uddin Matteo Tommaso Ungaro Rahul Varki Flavia Villani Ivo Violich Mitchell R. Vollger Brian P. Walenz Charles Wang Lisa E. Wang Ting Wang Aaron M. Wenger Conor V. Whelan Zilan Xin Zheng Xu Kai Ye DongAhn Yoo
... [+208 authors] ...,
Wenjin Zhang
Ying Zhou
Xiaoyu Zhuo
Giulia Zunino

First Published May 14, 2026

Erratum

Erratum: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

Cristian Groza
Bing Ge
Warren A. Cheung
Tomi Pastinen
Guillaume Bourque

First Published March 2, 2026

Method

Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit

David R. Lougheed
Tomi Pastinen
Guillaume Bourque

First Published January 15, 2026

Method

Highly accurate assembly polishing with DeepPolisher

Mira Mastoras
Mobin Asri
Lucas Brambrink
Prajna Hebbar
Alexey Kolesnikov
Daniel E. Cook Maria Nattestad Julian Lucas Taylor S. Won Pi-Chuan Chang Andrew Carroll Benedict Paten Kishwar Shafin Ahmad Abou Tayoun Derek Albracht Jamie Allen Alawi A. Alsheikh-Ali Casey Andrews Dmitry Antipov Lucinda Antonacci-Fulton Mobin Asri Marcelo Ayllon Jennifer R. Balacco Edward A. Belter Halle D. Bender Andrew P. Blair Silvia Buonaiuto Davide Bolognini Katherine E. Bonini Christina Boucher Guillaume Bourque Shuo Cao Andrew Carroll Ann M. Mc Cartney Monika Cechova Pi-Chuan Chang Xian Chang Jitender Cheema Haoyu Cheng Claudio Ciofi Sarah Cody Vincenza Colonna Holland C. Conwell Robert Cook-Deegan Mark Diekhans Maria Angela Diroma Daniel Doerr Zheng Dong Richard Durbin Jana Ebler Evan E Eichler Jordan M. Eizenga Parsa Eskandar Eddie Ferro Anna-Sophie Fiston-Lavier Sarah M. Ford Willard W. Ford Giulio Formenti Adam Frankish Mallory A. Freeberg Qichen Fu Stephanie M. Fullerton Robert S. Fulton Yan Gao Gage H. Garcia Obed A. Garcia Joshua M.V. Gardner Shilpa Garg Erik Garrison Nanibaa' A. Garrison John Garza Mohammadmersad Ghorbani Tina Graves-Lindsay Richard E. Green Cristian Groza Andrea Guarracino Melissa Gymrek Leanne Haggerty Ira M. Hall Nancy F. Hansen Mohammad Amiruddin Hashmi Maximilian Haeussler David Haussler Prajna Hebbar Peter Heringer Glenn Hickey Todd L. Hillaker S. Nakib Hossain Neng Huang Sarah E. Hunt Toby Hunt Nafiseh Jafarzadeh Nivesh Jain Erich D. Jarvis Juan Jiang Jonathan LoTempio Eimear E. Kenny Juhyun Kim Bonhwang Koo Sergey Koren Milinn Kremitzki Ben Langmead Xiaoyu Zhuo Heather A. Lawson Daofeng Li Heng Li Wen-Wei Liao Jiadong Lin Tianjie Liu Glennis A. Logsdon Ryan Lorig-Roach Hailey Loucks Jane E. Loveland Jianguo Lu Shuangjia Lu Julian K. Lucas Juan F. Macias-Velasco Maximillian G. Marin Franco L. Marsico Kateryna D. Makova Christopher Markovic Tobias Marschall Fergal J. Martin Mira Mastoras Capucine Mayoud Brandy McNulty Jack A. Medico Julian M. Menendez Karen H. Miga Anna Minkina Matthew W. Mitchell Saswat K. Mohanty Younes Mokrab Jean Monlong Shabir Moosa Avelina Moreno-Ochando Shinichi Morishita Jonathan M. Mudge Katherine M. Munson Njagi Mwaniki Nasna Nassir Chiara Natali Shloka Negi Lingbin Ni Adam M. Novak Chie Owa Sadye Paez Benedict Paten Hiram Clawson Clelia Peano Adam M. Phillippy Brandon D. Pickett Laura Pignata Nadia Pisanti David Porubsky Pjotr Prins Anandi Radhakrishnan Brian J. Raney Mikko Rautiainen Alessandro Raveane Luyao Ren Arang Rhie Farnaz Salehi Samuel Sacco Michael C. Schatz Laura B. Scheinfeldt Aarushi Sehgal William E. Seligmann Mahsa Shabani Kishwar Shafin Shadi Shahatit Ruhollah Shemirani Vikram S. Shivakumar Swati Sinha Jouni Sirén Linnéa Smeds Steven J. Solar Marco Sollitto Nicole Soranzo Andrew B. Stergachis Marie-Marthe Suner Yoshihiko Suzuki Arda Söylev Jack A.S. Tierney Chad Tomlinson Francesca Floriana Tricomi Mohammed Uddin Matteo Tommaso Ungaro Rahul Varki Flavia Villani Mitchell R. Vollger Brian P. Walenz Charles Wang Lisa E. Wang Ting Wang Aaron M. Wenger Conor V. Whelan Zilan Xin Zheng Xu Kai Ye DongAhn Yoo
... [+196 authors] ...,
Wenjin Zhang
Ying Zhou
Ivo Violich
Giulia Zunino

First Published May 19, 2025

Research

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

Cristian Groza
Bing Ge
Warren A. Cheung
Tomi Pastinen
Guillaume Bourque

First Published March 20, 2025

Research

Gaps and complex structurally variant loci in phased genome assemblies

David Porubsky
Mitchell R. Vollger
William T. Harvey
Allison N. Rozanski
Peter Ebert
Glenn Hickey Patrick Hasenfeld Ashley D. Sanders Catherine Stober Jan O. Korbel Benedict Paten Tobias Marschall Evan E. Eichler Haley J. Abel Lucinda L. Antonacci-Fulton Mobin Asri Gunjan Baid Carl A. Baker Anastasiya Belyaeva Konstantinos Billis Guillaume Bourque Silvia Buonaiuto Andrew Carroll Mark J.P. Chaisson Pi-Chuan Chang Xian H. Chang Haoyu Cheng Justin Chu Sarah Cody Vincenza Colonna Daniel E. Cook Robert M. Cook-Deegan Omar E. Cornejo Mark Diekhans Daniel Doerr Peter Ebert Jana Ebler Evan E. Eichler Jordan M. Eizenga Susan Fairley Olivier Fedrigo Adam L. Felsenfeld Xiaowen Feng Christian Fischer Paul Flicek Giulio Formenti Adam Frankish Robert S. Fulton Yan Gao Shilpa Garg Erik Garrison Nanibaa’ A. Garrison Carlos Garcia Giron Richard E. Green Cristian Groza Andrea Guarracino Leanne Haggerty Ira M. Hall William T. Harvey Marina Haukness David Haussler Simon Heumos Glenn Hickey Kendra Hoekzema Thibaut Hourlier Kerstin Howe Miten Jain Erich D. Jarvis Hanlee P. Ji Eimear E. Kenny Barbara A. Koenig Alexey Kolesnikov Jan O. Korbel Jennifer Kordosky Sergey Koren HoJoon Lee Alexandra P. Lewis Heng Li Wen-Wei Liao Shuangjia Lu Tsung-Yu Lu Julian K. Lucas Hugo Magalhães Santiago Marco-Sola Pierre Marijon Charles Markello Tobias Marschall Fergal J. Martin Ann McCartney Jennifer McDaniel Karen H. Miga Matthew W. Mitchell Jean Monlong Jacquelyn Mountcastle Katherine M. Munson Moses Njagi Mwaniki Maria Nattestad Adam M. Novak Sergey Nurk Hugh E. Olsen Nathan D. Olson Benedict Paten Trevor Pesout Adam M. Phillippy Alice B. Popejoy David Porubsky Pjotr Prins Daniela Puiu Mikko Rautiainen Allison A. Regier Arang Rhie Samuel Sacco Ashley D. Sanders Valerie A. Schneider Baergen I. Schultz Kishwar Shafin Jonas A. Sibbesen Jouni Sirén Michael W. Smith Heidi J. Sofia Ahmad N. Abou Tayoun Françoise Thibaud-Nissen Chad Tomlinson Francesca Floriana Tricomi Flavia Villani Mitchell R. Vollger Justin Wagner Brian Walenz
... [+123 authors] ...,
Ting Wang
Jonathan M.D. Wood
Aleksey V. Zimin
Justin M. Zook

First Published May 10, 2023

Resource

Benchmarking small-variant genotyping in polyploids

Daniel P. Cooke
David C. Wedge
Gerton Lunter

First Published December 29, 2021

Method

Ultrafast functional profiling of RNA-seq data for nonmodel organisms

Peng Liu
Jessica Ewald
Jose Hector Galvez
Jessica Head
Doug Crump
Guillaume Bourque
Niladri Basu
Jianguo Xia

First Published March 17, 2021

Research

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

Stephen B. Montgomery
David L. Goode
Erika Kvikstad
Cornelis A. Albers
Zhengdong D. Zhang
Xinmeng Jasmine Mu Guruprasad Ananda Bryan Howie Konrad J. Karczewski Kevin S. Smith Vanessa Anaya Rhea Richardson Joe Davis Daniel G. MacArthur Arend Sidow Laurent Duret Mark Gerstein
... [+12 authors] ...,
Kateryna D. Makova
Jonathan Marchini
Gil McVean
Gerton Lunter

First Published March 11, 2013

Research

Zebrafish mRNA sequencing deciphers novelties in transcriptome dynamics during maternal to zygotic transition

Håvard Aanes
Cecilia L. Winata
Chi Ho Lin
Jieqi P. Chen
Kandhadayar G. Srinivasan
Serene G.P. Lee Adrian Y.M. Lim Hajira Shreen Hajan Philippe Collas Guillaume Bourque
... [+5 authors] ...,
Zhiyuan Gong
Vladimir Korzh
Peter Aleström
Sinnakaruppan Mathavan

First Published May 9, 2011

Research

Transcriptional consequences of genomic structural aberrations in breast cancer

Koichiro Inaki
Axel M. Hillmer
Leena Ukil
Fei Yao
Xing Yi Woo
Leah A. Vardy Kelson Folkvard Braaten Zawack Charlie Wah Heng Lee Pramila Nuwantha Ariyaratne Yang Sun Chan Kartiki Vasant Desai Jonas Bergh Per Hall Thomas Choudary Putti Wai Loon Ong Atif Shahab Valere Cacheux-Rataboul Radha Krishna Murthy Karuturi Wing-Kin Sung
... [+14 authors] ...,
Xiaoan Ruan
Guillaume Bourque
Yijun Ruan
Edison T. Liu

First Published April 5, 2011

Research

Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes

Axel M. Hillmer
Fei Yao
Koichiro Inaki
Wah Heng Lee
Pramila N. Ariyaratne
Audrey S.M. Teo Xing Yi Woo Zhenshui Zhang Hao Zhao Leena Ukil Jieqi P. Chen Feng Zhu Jimmy B.Y. So Manuel Salto-Tellez Wan Ting Poh Kelson F.B. Zawack Niranjan Nagarajan Song Gao Guoliang Li Vikrant Kumar Hui Ping J. Lim Yee Yen Sia Chee Seng Chan See Ting Leong Say Chuan Neo Poh Sum D. Choi Hervé Thoreau Patrick B.O. Tan Atif Shahab Xiaoan Ruan Jonas Bergh Per Hall Valère Cacheux-Rataboul Chia-Lin Wei Khay Guan Yeoh
... [+30 authors] ...,
Wing-Kin Sung
Guillaume Bourque
Edison T. Liu
Yijun Ruan

First Published April 5, 2011

Resource

Dindel: Accurate indel calls from short-read data

Cornelis A. Albers
Gerton Lunter
Daniel G. MacArthur
Gilean McVean
Willem H. Ouwehand
Richard Durbin

First Published October 27, 2010

Resource

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

Gerton Lunter
Martin Goodson

First Published October 27, 2010

Research

Massive turnover of functional sequence in human and other mammalian genomes

Stephen Meader
Chris P. Ponting
Gerton Lunter

First Published August 6, 2010

Method

Genome assembly quality: Assessment and improvement using the neutral indel model

Stephen Meader
LaDeana W. Hillier
Devin Locke
Chris P. Ponting
Gerton Lunter

First Published March 19, 2010

Resource

Recovering genome rearrangements in the mammalian phylogeny

Hao Zhao
Guillaume Bourque

First Published May 1, 2009

LETTER

Evolution of the mammalian transcription factor binding repertoire via transposable elements

Guillaume Bourque
Bernard Leong
Vinsensius B. Vega
Xi Chen
Yen Ling Lee
Kandhadayar G. Srinivasan Joon-Lin Chew
... [+2 authors] ...,
Yijun Ruan
Chia-Lin Wei
Huck Hui Ng
Edison T. Liu

First Published August 5, 2008

Methods

Uncertainty in homology inferences: Assessing and improving genomic sequence alignment

Gerton Lunter
Andrea Rocco
Naila Mimouni
Andreas Heger
Alexandre Caldeira
Jotun Hein

First Published December 11, 2007

RESOURCE

Initial sequence and comparative analysis of the cat genome

Joan U. Pontius
James C. Mullikin
Douglas R. Smith
Kerstin Lindblad-Toh
Sante Gnerre
Michele Clamp Jean Chang Robert Stephens Beena Neelam Natalia Volfovsky Alejandro A. Schäffer Richa Agarwala Kristina Narfström William J. Murphy Urs Giger Alfred L. Roca Agostinho Antunes Marilyn Menotti-Raymond Naoya Yuhki Jill Pecon-Slattery
... [+15 authors] ...,
Warren E. Johnson
Guillaume Bourque
Glenn Tesler
Stephen J. O’Brien

First Published November 1, 2007

LETTER

Fusion transcripts and transcribed retrotransposed loci discovered through comprehensive transcriptome analysis using Paired-End diTags (PETs)

Yijun Ruan
Hong Sain Ooi
Siew Woh Choo
Kuo Ping Chiu
Xiao Dong Zhao
K.G. Srinivasan Fei Yao Chiou Yu Choo Jun Liu Pramila Ariyaratne Wilson G.W. Bin Vladimir A. Kuznetsov Atif Shahab
... [+8 authors] ...,
Wing-Kin Sung
Guillaume Bourque
Nallasivam Palanisamy
Chia-Lin Wei